NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile)
|
rs111971143
|
0.00436
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
NM_000517.6(HBA2):c.300+64A>G
|
rs111264741
|
0.00257
|
NM_000552.5(VWF):c.1596C>T (p.Gly532=)
|
rs111240043
|
0.00251
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_000552.5(VWF):c.385C>A (p.Leu129Met)
|
rs61753991
|
0.00225
|
NM_000492.4(CFTR):c.1585-9395C>G
|
rs77164005
|
0.00223
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_000558.5(HBA1):c.95+38C>T
|
rs556086584
|
0.00182
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000552.5(VWF):c.6303C>A (p.Gly2101=)
|
rs115914543
|
0.00132
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)
|
rs150576611
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_006231.4(POLE):c.4534G>A (p.Val1512Ile)
|
rs147354120
|
0.00053
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr)
|
rs141777100
|
0.00049
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_006231.4(POLE):c.3881G>A (p.Arg1294His)
|
rs115455318
|
0.00041
|
NM_000517.6(HBA2):c.95+39C>G
|
rs1025977498
|
0.00040
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr)
|
rs71579338
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)
|
rs146247063
|
0.00019
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000492.4(CFTR):c.1209+28C>T
|
rs370653287
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_058216.3(RAD51C):c.258A>T (p.Thr86=)
|
rs149228565
|
0.00017
|
NM_177438.3(DICER1):c.4207-3C>T
|
rs376041812
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)
|
rs200931999
|
0.00016
|
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)
|
rs780604625
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
NM_020975.6(RET):c.2607+4C>T
|
rs200634990
|
0.00015
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)
|
rs146077019
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)
|
rs150949949
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000384.3(APOB):c.2204T>A (p.Val735Glu)
|
rs199872875
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_002528.7(NTHL1):c.526-11_526-10del
|
rs764393572
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
NM_000136.3(FANCC):c.896+6C>T
|
rs199525333
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu)
|
rs139205893
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000251.2(MSH2):c.-73G>A
|
rs552303079
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
NM_002691.4(POLD1):c.187G>A (p.Glu63Lys)
|
rs200736325
|
0.00009
|
NM_002691.4(POLD1):c.2100A>G (p.Val700=)
|
rs772468675
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)
|
rs777718986
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000552.5(VWF):c.8273C>T (p.Ala2758Val)
|
rs144542595
|
0.00008
|
NM_000558.5(HBA1):c.250C>T (p.Leu84=)
|
rs754145030
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)
|
rs187203579
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
NM_000136.3(FANCC):c.345+6A>T
|
rs368595927
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000517.6(HBA2):c.*98T>C
|
rs1455865276
|
0.00007
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000368.5(TSC1):c.513C>T (p.His171=)
|
rs377196837
|
0.00006
|
NM_000384.3(APOB):c.5863G>A (p.Val1955Met)
|
rs368970025
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000548.5(TSC2):c.3883+6G>A
|
rs757751865
|
0.00006
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_003072.5(SMARCA4):c.1419+5G>A
|
rs199814381
|
0.00006
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu)
|
rs587782433
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)
|
rs397515062
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)
|
rs376711125
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.2974G>A (p.Glu992Lys)
|
rs774755404
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000314.8(PTEN):c.*10T>A
|
rs769236743
|
0.00004
|
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val)
|
rs200339216
|
0.00004
|
NM_000384.3(APOB):c.6283G>A (p.Val2095Ile)
|
rs200874264
|
0.00004
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00004
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
0.00004
|
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=)
|
rs760978505
|
0.00004
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)
|
rs368963039
|
0.00004
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
NM_002439.5(MSH3):c.1896A>G (p.Lys632=)
|
rs201737845
|
0.00004
|
NM_002439.5(MSH3):c.2085A>G (p.Lys695=)
|
rs777245977
|
0.00004
|
NM_002439.5(MSH3):c.3130+4T>G
|
rs764306633
|
0.00004
|
NM_002528.7(NTHL1):c.111A>G (p.Ala37=)
|
rs779229970
|
0.00004
|
NM_002528.7(NTHL1):c.354+4G>T
|
rs771353497
|
0.00004
|
NM_002691.4(POLD1):c.2250+4G>A
|
rs370478977
|
0.00004
|
NM_002691.4(POLD1):c.2250+7G>A
|
rs775363857
|
0.00004
|
NM_002878.4(RAD51D):c.264-7C>T
|
rs753529790
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu)
|
rs781360770
|
0.00004
|
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile)
|
rs138443282
|
0.00004
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
NM_006231.4(POLE):c.912C>T (p.Gly304=)
|
rs1064794932
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1863A>T (p.Arg621=)
|
rs786203119
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000384.3(APOB):c.12765C>T (p.Phe4255=)
|
rs746160756
|
0.00003
|
NM_000384.3(APOB):c.13566C>T (p.Asp4522=)
|
rs371437581
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000492.3(CFTR):c.-256G>A
|
rs1035377381
|
0.00003
|
NM_000518.5(HBB):c.316-177A>G
|
rs964085975
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
NM_002691.4(POLD1):c.758+5G>A
|
rs760003191
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_003072.5(SMARCA4):c.223-7C>G
|
rs762146990
|
0.00003
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
NM_005732.4(RAD50):c.39G>A (p.Arg13=)
|
rs779005784
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
NM_007294.4(BRCA1):c.5075-6C>A
|
rs397507240
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_177438.3(DICER1):c.162A>C (p.Ala54=)
|
rs776085363
|
0.00003
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00002
|
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)
|
rs762955111
|
0.00002
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser)
|
rs397507268
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
rs80358571
|
0.00002
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
NM_000059.4(BRCA2):c.9501+4A>G
|
rs81002848
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
|
rs374984975
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000517.6(HBA2):c.*103G>A
|
rs1363099908
|
0.00002
|
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)
|
rs281864817
|
0.00002
|
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000535.7(PMS2):c.537+6G>A
|
rs1358613918
|
0.00002
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
NM_002878.4(RAD51D):c.171G>A (p.Leu57=)
|
rs786202885
|
0.00002
|
NM_003072.5(SMARCA4):c.3873+6del
|
rs751936459
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
NM_004655.4(AXIN2):c.135C>T (p.Val45=)
|
rs376726966
|
0.00002
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)
|
rs528789830
|
0.00002
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
NM_000038.6(APC):c.221A>C (p.Glu74Ala)
|
rs773347338
|
0.00001
|
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)
|
rs768454793
|
0.00001
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)
|
rs730881511
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.1865C>T (p.Ala622Val)
|
rs80358477
|
0.00001
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
rs80358747
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)
|
rs398122550
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7162A>G (p.Thr2388Ala)
|
rs1060502390
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
NM_000059.4(BRCA2):c.7617+4T>C
|
rs397507923
|
0.00001
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)
|
rs567476314
|
0.00001
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
NM_000179.3(MSH6):c.*4_*6dup
|
rs1451012329
|
0.00001
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.2101T>C (p.Leu701=)
|
rs1057523503
|
0.00001
|
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)
|
rs730881820
|
0.00001
|
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)
|
rs752369374
|
0.00001
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
NM_000251.3(MSH2):c.1294T>C (p.Leu432=)
|
rs937218360
|
0.00001
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
NM_000251.3(MSH2):c.1760-3C>T
|
rs786202843
|
0.00001
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)
|
rs544963328
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
NM_000384.3(APOB):c.3239A>G (p.Asn1080Ser)
|
rs201825493
|
0.00001
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
0.00001
|
NM_000455.5(STK11):c.464+8C>T
|
rs863224669
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)
|
rs41321052
|
0.00001
|
NM_000518.4(HBB):c.-104G>A
|
rs1274149043
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.5(HBB):c.131A>C (p.Glu44Ala)
|
rs35262412
|
0.00001
|
NM_000518.5(HBB):c.201A>G (p.Lys67=)
|
rs36092904
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000518.5(HBB):c.316-107G>C
|
rs930802593
|
0.00001
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
NM_000518.5(HBB):c.316-156T>C
|
rs1164871363
|
0.00001
|
NM_000518.5(HBB):c.333G>A (p.Leu111=)
|
rs1215164743
|
0.00001
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
NM_000518.5(HBB):c.60C>T (p.Asn20=)
|
rs63750840
|
0.00001
|
NM_000527.5(LDLR):c.1515C>T (p.Gly505=)
|
rs780757228
|
0.00001
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
NM_000546.6(TP53):c.556G>A (p.Asp186Asn)
|
rs1060501206
|
0.00001
|
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)
|
rs587778718
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.949C>A (p.Gln317Lys)
|
rs764735889
|
0.00001
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)
|
rs201835391
|
0.00001
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000558.3(HBA1):c.341T>A (p.Leu114His)
|
rs35654345
|
0.00001
|
NM_000558.5(HBA1):c.62A>C (p.His21Pro)
|
rs33943087
|
0.00001
|
NM_000558.5(HBA1):c.63C>A (p.His21Gln)
|
rs281864502
|
0.00001
|
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_002439.5(MSH3):c.195G>C (p.Ala65=)
|
rs761734241
|
0.00001
|
NM_002439.5(MSH3):c.2370A>G (p.Arg790=)
|
rs1278142628
|
0.00001
|
NM_002439.5(MSH3):c.580-5G>T
|
rs770150309
|
0.00001
|
NM_002528.7(NTHL1):c.717C>T (p.Asn239=)
|
rs1475205147
|
0.00001
|
NM_002528.7(NTHL1):c.834C>T (p.Gly278=)
|
rs747049346
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002691.4(POLD1):c.2388+4C>T
|
rs371542643
|
0.00001
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
NM_002691.4(POLD1):c.2820+3C>T
|
rs986822818
|
0.00001
|
NM_002878.4(RAD51D):c.345+5A>G
|
rs878854562
|
0.00001
|
NM_002907.4(RECQL):c.1356-7T>C
|
rs370420341
|
0.00001
|
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)
|
rs776413354
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
NM_005228.5(EGFR):c.2172C>T (p.Gly724=)
|
rs754578411
|
0.00001
|
NM_005359.6(SMAD4):c.325C>T (p.Leu109=)
|
rs1248541873
|
0.00001
|
NM_005359.6(SMAD4):c.885G>A (p.Pro295=)
|
rs772028872
|
0.00001
|
NM_005431.2(XRCC2):c.742C>G (p.Gln248Glu)
|
rs190900560
|
0.00001
|
NM_005732.4(RAD50):c.129+5G>A
|
rs587781409
|
0.00001
|
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)
|
rs373817937
|
0.00001
|
NM_006231.4(POLE):c.1608T>C (p.Ser536=)
|
rs763078534
|
0.00001
|
NM_006231.4(POLE):c.2706+10G>A
|
rs372609836
|
0.00001
|
NM_006231.4(POLE):c.2707-9G>A
|
rs1057521516
|
0.00001
|
NM_006231.4(POLE):c.2964G>A (p.Ser988=)
|
rs200080353
|
0.00001
|
NM_006231.4(POLE):c.3582+6G>A
|
rs113307290
|
0.00001
|
NM_006231.4(POLE):c.5562T>C (p.Ala1854=)
|
rs1174721130
|
0.00001
|
NM_006231.4(POLE):c.6748-6C>T
|
rs750255126
|
0.00001
|
NM_006231.4(POLE):c.942A>C (p.Ser314=)
|
rs548933169
|
0.00001
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=)
|
rs202104749
|
0.00001
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
NM_007294.4(BRCA1):c.2481A>G (p.Glu827=)
|
rs397508970
|
0.00001
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
NM_007294.4(BRCA1):c.5024C>T (p.Thr1675Ile)
|
rs150729791
|
0.00001
|
NM_007294.4(BRCA1):c.5333-7A>G
|
rs538969920
|
0.00001
|
NM_007294.4(BRCA1):c.593+9A>G
|
rs80358133
|
0.00001
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)
|
rs748675395
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=)
|
rs1423291369
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
NM_024675.4(PALB2):c.3114-5C>T
|
rs753307725
|
0.00001
|
NM_032043.3(BRIP1):c.-6A>C
|
rs1442433909
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
NM_174936.4(PCSK9):c.1323G>A (p.Val441=)
|
rs1365723695
|
0.00001
|
NM_177438.3(DICER1):c.5529A>G (p.Glu1843=)
|
rs768311617
|
0.00001
|
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
|
|
|
NM_000038.6(APC):c.2094A>G (p.Leu698=)
|
rs1426881729
|
|
NM_000038.6(APC):c.4413A>G (p.Ala1471=)
|
rs964029262
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)
|
rs775501375
|
|
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)
|
rs766473931
|
|
NM_000038.6(APC):c.841A>G (p.Thr281Ala)
|
rs769727966
|
|
NM_000038.6(APC):c.933+5C>T
|
rs573528468
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
NM_000057.4(BLM):c.*6G>T
|
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
NM_000059.4(BRCA2):c.*8C>T
|
rs747134610
|
|
NM_000059.4(BRCA2):c.-51C>T
|
rs1057521841
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
rs1052409595
|
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
rs753512842
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile)
|
rs587782582
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)
|
rs397507319
|
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
rs768735660
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=)
|
rs786201350
|
|
NM_000059.4(BRCA2):c.4524A>T (p.Gly1508=)
|
rs876658560
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
NM_000059.4(BRCA2):c.6841+8T>G
|
rs2137531137
|
|
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp)
|
rs80358911
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
NM_000059.4(BRCA2):c.6979T>C (p.Leu2327=)
|
rs959097768
|
|
NM_000059.4(BRCA2):c.7007+7_7007+8del
|
rs1555285373
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)
|
rs80358957
|
|
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)
|
rs786203755
|
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
rs2072711060
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8407C>T (p.Leu2803=)
|
rs1555287631
|
|
NM_000059.4(BRCA2):c.8632+6A>G
|
rs81002894
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
rs1593891536
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)
|
rs80359256
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
NM_000143.4(FH):c.576C>G (p.Pro192=)
|
rs1413797947
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.1281C>T (p.Tyr427=)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1902G>A (p.Leu634=)
|
rs1572724876
|
|
NM_000179.3(MSH6):c.2688A>G (p.Lys896=)
|
rs876659173
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)
|
rs267608129
|
|
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)
|
rs1558394684
|
|
NM_000179.3(MSH6):c.4002-8dup
|
rs267608139
|
|
NM_000179.3(MSH6):c.4064_*23dup (p.Leu1354_Ter1361=)
|
rs760782238
|
|
NM_000179.3(MSH6):c.4071_*4dup (p.Ile1357_Ter1361=)
|
rs1491544951
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.945T>G (p.Ser315=)
|
rs761581941
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1365T>A (p.Thr455=)
|
rs753671152
|
|
NM_000249.4(MLH1):c.516A>G (p.Glu172=)
|
rs748128054
|
|
NM_000249.4(MLH1):c.546-5del
|
rs1553643965
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
NM_000251.3(MSH2):c.*10_*12del
|
rs764232113
|
|
NM_000251.3(MSH2):c.-8G>T
|
rs1064795641
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.1027-4C>G
|
rs587782788
|
|
NM_000314.8(PTEN):c.1161A>G (p.Pro387=)
|
rs1057523975
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1230C>T (p.Ala410=)
|
rs864622171
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
NM_000455.5(STK11):c.840C>T (p.Pro280=)
|
rs1471868090
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2620-22A>G
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.744-34_744-31del
|
rs768226435
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)
|
rs281865555
|
|
NM_000517.5(HBA2):c.-41C>G
|
rs1188584832
|
|
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)
|
rs281864853
|
|
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)
|
rs41331747
|
|
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
|
|
|
NM_000517.6(HBA2):c.300+8G>A
|
|
|
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu)
|
rs267607269
|
|
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)
|
rs281864809
|
|
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)
|
rs281860609
|
|
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)
|
rs63750367
|
|
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)
|
rs63750294
|
|
NM_000518.4(HBB):c.142G>A (p.Asp48Asn)
|
rs33932070
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.4(HBB):c.232C>G (p.His78Asp)
|
rs33991294
|
|
NM_000518.4(HBB):c.68A>G (p.Glu23Gly)
|
rs33936254
|
|
NM_000518.4(HBB):c.8A>G (p.His3Arg)
|
rs33983205
|
|
NM_000518.5(HBB):c.10C>G (p.Leu4Val)
|
rs34126315
|
|
NM_000518.5(HBB):c.24G>A (p.Glu8=)
|
|
|
NM_000518.5(HBB):c.255C>A (p.Thr85=)
|
rs1334966870
|
|
NM_000518.5(HBB):c.316-100T>A
|
rs1847534694
|
|
NM_000518.5(HBB):c.316-148G>C
|
rs1847536038
|
|
NM_000518.5(HBB):c.316-179A>T
|
|
|
NM_000518.5(HBB):c.316-210T>A
|
rs1847537565
|
|
NM_000518.5(HBB):c.316-336del
|
rs1251286087
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.394C>A (p.Gln132Lys)
|
rs33910209
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
NM_000518.5(HBB):c.93-14T>C
|
rs1428777319
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000535.7(PMS2):c.*2C>T
|
rs764124442
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.1144+5G>C
|
rs1783506726
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000552.5(VWF):c.1110-6dup
|
rs534403271
|
|
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu)
|
rs139196998
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
|
|
|
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
|
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
|
|
|
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)
|
rs33960522
|
|
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)
|
rs33977363
|
|
NM_000558.4(HBA1):c.-52C>T
|
rs1276035978
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)
|
rs281865560
|
|
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)
|
rs41530750
|
|
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)
|
rs33993166
|
|
NM_000791.4(DHFR):c.-231C>A
|
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001048174.2(MUTYH):c.774G>A (p.Gly258=)
|
rs771290019
|
|
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)
|
rs587780083
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_002439.5(MSH3):c.1911G>A (p.Glu637=)
|
rs1005120343
|
|
NM_002439.5(MSH3):c.3003G>A (p.Val1001=)
|
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
|
|
|
NM_002528.7(NTHL1):c.115+10C>T
|
rs756945300
|
|
NM_002528.7(NTHL1):c.525+10G>A
|
rs2150942168
|
|
NM_002528.7(NTHL1):c.686-9T>C
|
rs1213514224
|
|
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile)
|
rs577781337
|
|
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=)
|
rs776167760
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
NM_002878.4(RAD51D):c.412A>C (p.Asn138His)
|
rs141690729
|
|
NM_002907.4(RECQL):c.1848G>A (p.Glu616=)
|
rs1369932572
|
|
NM_003072.5(SMARCA4):c.*9A>T
|
rs369766168
|
|
NM_003072.5(SMARCA4):c.3645A>G (p.Leu1215=)
|
rs1555784535
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004329.3(BMPR1A):c.430+10C>T
|
rs863224395
|
|
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=)
|
rs770821763
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004360.5(CDH1):c.-8G>C
|
rs879449703
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.49-8C>T
|
rs774761552
|
|
NM_004656.4(BAP1):c.1947C>T (p.Cys649=)
|
rs1041287605
|
|
NM_005228.5(EGFR):c.2652A>G (p.Glu884=)
|
rs1787457978
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
NM_006231.4(POLE):c.-6G>C
|
rs534524789
|
|
NM_006231.4(POLE):c.1242C>T (p.Asp414=)
|
rs775213170
|
|
NM_006231.4(POLE):c.2085C>T (p.Phe695=)
|
rs1060500837
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2292G>A (p.Arg764=)
|
rs1555227097
|
|
NM_006231.4(POLE):c.2469-5C>T
|
rs1565961371
|
|
NM_006231.4(POLE):c.2575C>T (p.Leu859=)
|
rs1565960909
|
|
NM_006231.4(POLE):c.3583-9T>G
|
rs1218288858
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006231.4(POLE):c.4551+10G>A
|
rs1565938933
|
|
NM_006231.4(POLE):c.4587G>A (p.Leu1529=)
|
rs1565938547
|
|
NM_006231.4(POLE):c.4731G>A (p.Glu1577=)
|
rs772361606
|
|
NM_006231.4(POLE):c.6279C>T (p.Ser2093=)
|
rs1262321199
|
|
NM_006231.4(POLE):c.804C>T (p.Asp268=)
|
rs1593079711
|
|
NM_006361.6(HOXB13):c.159G>T (p.Leu53=)
|
rs1265294177
|
|
NM_006361.6(HOXB13):c.601+7C>G
|
rs752322954
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007294.4(BRCA1):c.*4C>T
|
rs1057520246
|
|
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)
|
rs1060504568
|
|
NM_007294.4(BRCA1):c.1011A>G (p.Glu337=)
|
rs1555592670
|
|
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=)
|
rs1057522369
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)
|
rs41286294
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu)
|
rs1567792424
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3655G>A (p.Glu1219Lys)
|
rs80356921
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)
|
rs80357217
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
NM_007294.4(BRCA1):c.4097-7A>G
|
rs80358007
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
NM_007294.4(BRCA1):c.4185+5A>G
|
rs766330646
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)
|
rs80357205
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)
|
rs398122708
|
|
NM_007294.4(BRCA1):c.80+7C>A
|
rs80358098
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
|
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1746C>T (p.Ser582=)
|
rs1057520985
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
NM_058195.4(CDKN2A):c.194-3653G>C
|
rs1800586
|
|
NM_058216.3(RAD51C):c.-7G>A
|
rs753249247
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_144997.7(FLCN):c.1451A>G (p.Asn484Ser)
|
rs1010980331
|
|
Single allele
|
|
|